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    ALG12 ALG12 alpha-1,6-mannosyltransferase [ Homo sapiens (human) ]

    Gene ID: 79087, updated on 28-Oct-2024

    Summary

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    Official Symbol
    ALG12provided by HGNC
    Official Full Name
    ALG12 alpha-1,6-mannosyltransferaseprovided by HGNC
    Primary source
    HGNC:HGNC:19358
    See related
    Ensembl:ENSG00000182858 MIM:607144; AllianceGenome:HGNC:19358
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CDG1G; ECM39; hALG12; PP14673
    Summary
    This gene encodes a member of the glycosyltransferase 22 family. The encoded protein catalyzes the addition of the eighth mannose residue in an alpha-1,6 linkage onto the dolichol-PP-oligosaccharide precursor (dolichol-PP-Man(7)GlcNAc(2)) required for protein glycosylation. Mutations in this gene have been associated with congenital disorder of glycosylation type Ig (CDG-Ig)characterized by abnormal N-glycosylation. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in thyroid (RPKM 10.8), prostate (RPKM 8.3) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ALG12 in Genome Data Viewer
    Location:
    22q13.33
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (49859311..49918438, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (50363473..50422920, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (50293877..50312086, complement)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105377205 Neighboring gene basic proline-rich protein-like Neighboring gene sterile alpha motif domain-containing protein 1-like Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13925 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13926 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13927 Neighboring gene uncharacterized LOC124905147 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:50250325-50250985 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:50252588-50253125 Neighboring gene zinc finger BED-type containing 4 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19282 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:50281931-50282432 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:50294104-50294824 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:50294825-50295544 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:50295545-50296264 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13928 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13929 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:50316438-50317008 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:50317009-50317578 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19284 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19285 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19286 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19287 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13930 Neighboring gene cysteine rich with EGF like domains 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19288 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13931 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13932 Neighboring gene Sharpr-MPRA regulatory region 8073 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:50336353-50337079 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:50337080-50337805 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:50340469-50341056 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:50343989-50344576 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:50344577-50345162 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:50346923-50347508 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13935 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13936 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13937 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13938 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13939 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13940 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13941 Neighboring gene microRNA 6821 Neighboring gene Pim-3 proto-oncogene, serine/threonine kinase

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Deficiency of dolichyl-P-Man:Man7GlcNAc2-PP-dolichyl mannosyltransferase causes congenital disorder of glycosylation type Ig. Thiel C, et al. Biochem J, 2002 Oct 1. PMID 12093361, Free PMC Article
    2. A novel homozygous mutation in the human ALG12 gene results in an aberrant profile of oligomannose N-glycans in patient's serum. Ziburová J, et al. Am J Med Genet A, 2021 Nov. PMID 34467644, Free PMC Article
    3. Novel ALG12 variants and hydronephrosis in siblings with impaired N-glycosylation. Hiraide T, et al. Brain Dev, 2021 Oct. PMID 34092405
    4. Abnormal glycosylation of red cell membrane band 3 in the congenital disorder of glycosylation Ig. Zdebska E, et al. Pediatr Res, 2003 Aug. PMID 12736397
    5. ALG12-CDG: novel glycophenotype insights endorse the molecular defect. Sturiale L, et al. Glycoconj J, 2019 Dec. PMID 31529350

    See all (30) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. A novel homozygous mutation in the human ALG12 gene results in an aberrant profile of oligomannose N-glycans in patient's serum.
      Title: A novel homozygous mutation in the human ALG12 gene results in an aberrant profile of oligomannose N-glycans in patient's serum.
    2. Novel ALG12 variants and hydronephrosis in siblings with impaired N-glycosylation.
      Title: Novel ALG12 variants and hydronephrosis in siblings with impaired N-glycosylation.
    3. As a whole, ALG12-CDG behaves as a dual CDG (CDG-I and II defects) and it is associated with distinct, abnormal glycosylation of total serum and IgG N-glycans
      Title: ALG12-CDG: novel glycophenotype insights endorse the molecular defect.
    4. deficiency results in congenital disorders of glycosylation type Ig
      Title: Congenital disorders of glycosylation type Ig is defined by a deficiency in dolichyl-P-mannose:Man7GlcNAc2-PP-dolichyl mannosyltransferase.
    5. this enzyme has a role in glycosylation and its deficiency causes congenital disorder of glycosylation type Ig
      Title: Deficiency of dolichyl-P-Man:Man7GlcNAc2-PP-dolichyl mannosyltransferase causes congenital disorder of glycosylation type Ig.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC3136, MGC111358

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables alpha-1,6-mannosyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables dolichyl-P-Man:Man(7)GlcNAc(2)-PP-dolichol alpha-1,6-mannosyltransferase IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables mannosyltransferase activity TAS
    Traceable Author Statement
    more info
    		  
    Process Evidence Code Pubs
    acts_upstream_of_or_within dolichol-linked oligosaccharide biosynthetic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in dolichol-linked oligosaccharide biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in dolichol-linked oligosaccharide biosynthetic process TAS
    Traceable Author Statement
    more info
    		  
    involved_in protein N-linked glycosylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein N-linked glycosylation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein folding NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in endoplasmic reticulum NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    is_active_in endoplasmic reticulum membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
    		  
    is_active_in lumenal side of endoplasmic reticulum membrane IC
    Inferred by Curator
    more info
    		 PubMed 
    located_in membrane HDA PubMed 

    General protein information

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    Preferred Names
    dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase
    Names
    asparagine-linked glycosylation 12 homolog (S. cerevisiae, alpha-1,6-mannosyltransferase)
    asparagine-linked glycosylation 12 homolog (yeast, alpha-1,6-mannosyltransferase)
    asparagine-linked glycosylation 12, alpha-1,6-mannosyltransferase homolog
    asparagine-linked glycosylation protein 12 homolog
    dol-P-Man dependent alpha-1,6-mannosyltransferase
    dolichyl-P-Man:Man(7)GlcNAc(2)-PP-dolichol alpha-1,6-mannosyltransferase
    dolichyl-P-Man:Man(7)GlcNAc(2)-PP-dolichyl-alpha-1,6-mannosyltransferase
    dolichyl-P-mannose:Man-7-GlcNAc-2-PP-dolichyl-alpha-6-mannosyltransferase
    mannosyltransferase ALG12 homolog
    membrane protein SB87
    NP_077010.1
    XP_016884425.1
    XP_016884426.1
    XP_054181881.1
    XP_054181882.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_008927.1 RefSeqGene

      Range
      5001..20255
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_024105.4 → NP_077010.1  dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase

      See identical proteins and their annotated locations for NP_077010.1

      Status: REVIEWED

      Source sequence(s)
      AF318343, AL671710, BM145575, CB858085
      Consensus CDS
      CCDS14081.1
      UniProtKB/Swiss-Prot
      A6PWM1, Q4KMH4, Q8NG10, Q96AA4, Q9BV10
      Related
      ENSP00000333813.5, ENST00000330817.11
      Conserved Domains (1) summary
      cl21590
      Location:19 → 354
      PMT_2; Dolichyl-phosphate-mannose-protein mannosyltransferase

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      49859311..49918438 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017028936.2 → XP_016884425.1  dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase isoform X1

      Conserved Domains (1) summary
      cl21590
      Location:19 → 354
      PMT_2; Dolichyl-phosphate-mannose-protein mannosyltransferase

    2. XM_017028937.2 → XP_016884426.1  dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      50363473..50422920 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054325906.1 → XP_054181881.1  dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase isoform X1

    2. XM_054325907.1 → XP_054181882.1  dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BV10.1 GenPept UniProtKB/Swiss-Prot:Q9BV10

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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